Article
Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.
Human molecular genetics - 1 Jun 2019
Simmons Ambrosia J, Park Raehee, Sterling Noelle A, Jang Mi-Hyeon, van Deursen Jan M A, Yen Timothy J, Cho Seo-Hee, Kim Seonhee
Abstract excerpt
BUB-related 1 (BubR1) encoded by Budding Uninhibited by Benzimidazole 1B (BUB1B) is a crucial mitotic checkpoint protein ensuring proper segregation of chromosomes during mitosis. Mutations of BUB1B are responsible for mosaic variegated aneuploidy (MVA), a human congenital disorder characterized...
Topics
- Alleles
- Animals
- Apoptosis
- Cell Cycle Proteins
- Cell Proliferation
- Cerebral Cortex
- Chromosome Disorders
- Chromosome Segregation
- Disease Models, Animal
- Humans
- Mice
- Microcephaly
- Mitosis
- Mosaicism
- Mutation